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Description
doi: 10.14740/jmc3639

SLC22A5 mutations impair OCTN2 function, causing primary carnitine deficiency (PCD) (1517), an autosomal recessive disorder characterized by skeletal myopathy, progressive cardiomyopathy, hypoglycemia, and hyperammonemia

2013 15 de septiembre

Vestibular neuritis and labyrinthitis